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LDS5
MCID: LYS020
MIFTS: 49

Loeys-Dietz Syndrome 5 (LDS5)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Loeys-Dietz Syndrome 5

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MalaCards integrated aliases for Loeys-Dietz Syndrome 5:

Name: Loeys-Dietz Syndrome 5 57 12 72 29 6 15
Rienhoff Syndrome 57 20 72 36 17 70
Lds5 57 12 72
Rnhf 57 12 72
Syndrome, Loeys-Dietz, Type 5 39
Rienhoff Syndrome; Rnhf 57
Reinhoff Syndrome 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
autoimmune manifestations are present in some patients


HPO:

31
loeys-dietz syndrome 5:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Cardiovascular diseases Eye diseases Immune diseases
See all MalaCards categories (disease lists)


Sources

Summaries for Loeys-Dietz Syndrome 5

About this section
OMIM® : 57 Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see 609192), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (609192). (615582) (Updated 05-Apr-2021)

MalaCards based summary : Loeys-Dietz Syndrome 5, also known as rienhoff syndrome, is related to loeys-dietz syndrome and pulsating exophthalmos. An important gene associated with Loeys-Dietz Syndrome 5 is TGFB3 (Transforming Growth Factor Beta 3), and among its related pathways/superpathways are MAPK signaling pathway and FoxO signaling pathway. Related phenotypes are ptosis and smooth philtrum

Disease Ontology : 12 A Loeys-Dietz syndrome that has material basis in heterozygous mutation in the TGFB3 gene on chromosome 14q24.

KEGG : 36 Rienhoff syndrome is a congenital syndrome presenting at birth with distal arthrogryposis, hypotonia, bifid uvula, and a failure of normal post-natal muscle development but no evidence of vascular disease. A mutation in TGFB3 was identified suggesting that decreased TGF-beta signaling from a loss of TGFB3 activity is likely responsible for the clinical phenotype.

UniProtKB/Swiss-Prot : 72 Loeys-Dietz syndrome 5: A form of Loeys-Dietz syndrome, a syndrome with widespread systemic involvement characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. LDS5 additional variable features include mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity. LDS5 patients do not manifest remarkable aortic or arterial tortuosity, and there is no strong evidence for early aortic dissection.

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Related Diseases for Loeys-Dietz Syndrome 5

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Diseases in the Loeys-Dietz Syndrome family:

Loeys-Dietz Syndrome 1 Loeys-Dietz Syndrome 2
Loeys-Dietz Syndrome 3 Loeys-Dietz Syndrome 4
Loeys-Dietz Syndrome 5

Diseases related to Loeys-Dietz Syndrome 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 loeys-dietz syndrome 29.3 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
2 pulsating exophthalmos 10.1 TGFBR2 TGFBR1
3 transient hypogammaglobulinemia of infancy 10.1 TGFBR2 TGFBR1
4 transient hypogammaglobulinemia 10.1 TGFBR2 TGFBR1
5 multiple self-healing squamous epithelioma 10.1 TGFBR2 TGFBR1
6 tracheal stenosis 10.0 TGFB3 FBN1
7 camurati-engelmann disease 10.0 TGFBR2 TGFBR1
8 subclavian artery aneurysm 10.0 TGFBR2 FBN1
9 autosomal dominant non-syndromic intellectual disability 19 10.0 SMAD3 SMAD2
10 albinism, ocular, with late-onset sensorineural deafness 10.0 SMAD3 SMAD2
11 nephrogenic systemic fibrosis 10.0 SMAD3 SMAD2
12 ectopia lentis 1, isolated, autosomal dominant 10.0 TGFBR2 FBN1
13 ectopia lentis 2, isolated, autosomal recessive 10.0 TGFBR2 FBN1
14 melorheostosis 10.0 SMAD3 SMAD2
15 familial colorectal cancer 9.9 TGFBR2 TGFBR1
16 tuberculoid leprosy 9.9 TGFB3 TGFB2
17 ureteral disease 9.9 SMAD3 SMAD2
18 clear cell adenocarcinoma 9.9 SMAD3 SMAD2
19 telangiectasis 9.9 TGFBR1 FBN1
20 tendinosis 9.9 TGFBR2 TGFB2
21 mitochondrial dna depletion syndrome 12b 9.8 TGFBR2 TGFBR1 FBN1
22 aortic valve insufficiency 9.8 TGFBR2 TGFBR1 FBN1
23 spinal muscular atrophy, type ii 9.8 SMAD3 SMAD2
24 loeys-dietz syndrome 2 9.8 TGFBR2 TGFBR1 FBN1
25 collagen disease 9.8 TGFBR2 TGFBR1 FBN1
26 cutis laxa, autosomal dominant 1 9.8 TGFBR2 TGFBR1 FBN1
27 patent ductus arteriosus 1 9.8 TGFBR2 TGFBR1 FBN1
28 aortic aneurysm, familial thoracic 6 9.8 TGFBR1 SMAD3 FBN1
29 vitreous disease 9.8 TGFB2 SMAD2
30 ehlers-danlos syndrome, vascular type 9.8 TGFB2 FBN1
31 phacogenic glaucoma 9.7 TGFB2 FBN1
32 stiff skin syndrome 9.7 TGFB2 FBN1
33 craniosynostosis 9.7 TGFBR2 TGFBR1 FBN1
34 hypertrophic scars 9.7 SMAD3 SMAD2 FBN1
35 peyronie's disease 9.7 TGFB3 TGFB2 SMAD3
36 intracranial aneurysm 9.7 TGFBR2 TGFBR1 TGFB2
37 hereditary hemorrhagic telangiectasia 9.7 TGFBR2 TGFBR1 TGFB2
38 bullous keratopathy 9.6 TGFB3 TGFB2 FBN1
39 keratopathy 9.6 TGFB3 TGFB2 FBN1
40 mitral valve disease 9.6 TGFB3 TGFB2 FBN1
41 spastic paraplegia 3, autosomal dominant 9.6 TGFB2 SMAD3 SMAD2
42 renal fibrosis 9.6 TGFBR2 TGFBR1 SMAD3 SMAD2
43 pulmonary hypertension 9.6 TGFBR2 TGFBR1 SMAD3 SMAD2
44 vitreoretinopathy, neovascular inflammatory 9.5 TGFBR2 TGFB2
45 cleft palate, isolated 9.5 TGFBR2 TGFBR1 TGFB3 TGFB2
46 arterial tortuosity syndrome 9.4 TGFBR2 TGFBR1 TGFB2 FBN1
47 marfan syndrome 9.4 TGFBR2 TGFBR1 TGFB2 FBN1
48 cataract 9.3 TGFBR2 TGFB3 TGFB2 FBN1
49 scoliosis 9.3 TGFBR2 TGFB2 SMAD3 FBN1
50 osteoporosis 9.2 TGFBR1 TGFB2 SMAD3 SMAD2

Graphical network of the top 20 diseases related to Loeys-Dietz Syndrome 5:



Diseases related to Loeys-Dietz Syndrome 5
Sources

Symptoms & Phenotypes for Loeys-Dietz Syndrome 5

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Human phenotypes related to Loeys-Dietz Syndrome 5:

31 (show all 44)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 occasional (7.5%) HP:0000508
2 smooth philtrum 31 occasional (7.5%) HP:0000319
3 brachycephaly 31 occasional (7.5%) HP:0000248
4 motor delay 31 occasional (7.5%) HP:0001270
5 talipes equinovarus 31 occasional (7.5%) HP:0001762
6 dolichocephaly 31 occasional (7.5%) HP:0000268
7 downslanted palpebral fissures 31 occasional (7.5%) HP:0000494
8 spondylolisthesis 31 occasional (7.5%) HP:0003302
9 long face 31 occasional (7.5%) HP:0000276
10 ventricular septal defect 31 occasional (7.5%) HP:0001629
11 bruising susceptibility 31 occasional (7.5%) HP:0000978
12 osteoarthritis 31 occasional (7.5%) HP:0002758
13 midface retrusion 31 occasional (7.5%) HP:0011800
14 cerebral hemorrhage 31 occasional (7.5%) HP:0001342
15 aortic regurgitation 31 occasional (7.5%) HP:0001659
16 patent foramen ovale 31 occasional (7.5%) HP:0001655
17 broad face 31 occasional (7.5%) HP:0000283
18 cervical spine instability 31 occasional (7.5%) HP:0010646
19 hypertelorism 31 very rare (1%) HP:0000316
20 pes planus 31 very rare (1%) HP:0001763
21 pectus excavatum 31 very rare (1%) HP:0000767
22 kyphoscoliosis 31 very rare (1%) HP:0002751
23 arachnodactyly 31 very rare (1%) HP:0001166
24 ascending aortic dissection 31 very rare (1%) HP:0004933
25 tall stature 31 very rare (1%) HP:0000098
26 bifid uvula 31 very rare (1%) HP:0000193
27 high palate 31 HP:0000218
28 inguinal hernia 31 HP:0000023
29 pectus carinatum 31 HP:0000768
30 neonatal hypotonia 31 HP:0001319
31 short stature 31 HP:0004322
32 decreased muscle mass 31 HP:0003199
33 retrognathia 31 HP:0000278
34 mitral regurgitation 31 HP:0001653
35 joint hypermobility 31 HP:0001382
36 proptosis 31 HP:0000520
37 hyporeflexia 31 HP:0001265
38 blue sclerae 31 HP:0000592
39 hiatus hernia 31 HP:0002036
40 small for gestational age 31 HP:0001518
41 exotropia 31 HP:0000577
42 increased arm span 31 HP:0012771
43 bilateral coxa valga 31 HP:0010665
44 eosinophilic infiltration of the esophagus 31 HP:0410151

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen External Features:
inguinal hernia

Chest External Features:
pectus carinatum
pectus excavatum

Head And Neck Mouth:
cleft palate
bifid uvula
high-arched palate

Skeletal Hands:
arachnodactyly
bilateral contractures of fingers (rare)
palmar flexion, transient postnatal (rare)

Growth Height:
tall stature
short stature (rare)

Cardiovascular Heart:
ventricular septal defect (rare)
atrial septal defect (rare)
mitral insufficiency
aortic insufficiency, mild (rare)
patent foramen ovale (rare)
more
Cardiovascular Vascular:
aortic root dilation
aneurysm of abdominal aorta
varices
aneurysm of thoracic aorta
aneurysmal dissection or rupture
more
Head And Neck Head:
dolichocephaly (in some patients)
brachycephaly (rare)
metopic ridge, small (rare)

Skin Nails Hair Skin:
easy bruising (in some patients)
thin translucent skin (in some patients)
soft velvety skin (in some patients)

Growth Other:
growth retardation (rare)

Skeletal:
osteoarthritis, early onset (in some patients)

Muscle Soft Tissue:
subcutaneous fat markedly reduced (in some patients)
decreased muscle mass (in some patients)

Head And Neck Eyes:
hypertelorism
exotropia
ptosis (rare)
downslanting palpebral fissures (in some patients)
blue sclerae (in some patients)
more
Skeletal Feet:
pes planus
clubfeet (in some patients)
camptodactyly of toes (in some patients)
pes adductus, transient postnatal (rare)

Skeletal Spine:
kyphoscoliosis
spondylolisthesis (rare)
cervical spine instability (rare)

Skeletal Limbs:
joint hypermobility
increased arm span

Head And Neck Face:
retrognathia, mild
long face (in some patients)
smooth philtrum (rare)
wide face (rare)
midface hypoplasia (rare)

Chest Diaphragm:
hiatal hernia

Neurologic Central Nervous System:
delayed motor development (in some patients)
congenital hypotonia, mild (in some patients)
cerebral hemorrhage (rare)

Skeletal Skull:
dolichocephaly (in some patients)
brachycephaly (rare)
metopic ridge, small (rare)

Growth Weight:
low birth weight (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
scapulae alata (rare)

Skeletal Pelvis:
bilateral coxa valga (rare)

Clinical features from OMIM®:

615582 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Loeys-Dietz Syndrome 5 according to GeneCards Suite gene sharing:

26 (show top 50) (show all 56)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10 TGFBR2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-107 10 TGFB2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-121 10 TGFBR2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-123 10 TGFBR2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-133 10 TGFB2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 10 TGFB2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10 TGFBR2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 10 TGFBR2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10 TGFBR2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-164 10 TGFBR2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10 TGFBR1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 10 TGFBR1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 10 TGFBR2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 10 TGFBR2
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 10 TGFB2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-36 10 TGFBR1
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-50 10 TGFB2
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 10 TGFBR2
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 10 TGFB2
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 10 TGFBR2
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-81 10 TGFBR2
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 10 TGFBR2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.92 SMAD2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.92 SMAD2 TGFB2 TGFBR1 TGFBR2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.92 TGFB2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.92 TGFBR2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.92 TGFBR2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.92 TGFB2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-14 9.92 TGFB2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.92 TGFBR1 TGFBR2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.92 TGFBR2
32 Increased shRNA abundance (Z-score > 2) GR00366-A-165 9.92 TGFBR2
33 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.92 TGFBR1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.92 SMAD2
35 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.92 SMAD2
36 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.92 TGFBR2
37 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.92 TGFBR2
38 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.92 TGFB2
39 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.92 TGFBR1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-203 9.92 SMAD2
41 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.92 SMAD2
42 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.92 TGFB2
43 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.92 TGFBR1
44 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.92 SMAD2
45 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.92 TGFBR1
46 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.92 TGFBR2
47 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.92 TGFB2
48 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.92 TGFBR2
49 Increased shRNA abundance (Z-score > 2) GR00366-A-59 9.92 TGFB2
50 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.92 TGFB2 TGFBR1 TGFBR2

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 5:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.04 FBN1 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR1
2 cellular MP:0005384 10.02 FBN1 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR1
3 embryo MP:0005380 9.95 FBN1 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR1
4 craniofacial MP:0005382 9.93 FBN1 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR2
5 digestive/alimentary MP:0005381 9.91 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
6 hematopoietic system MP:0005397 9.87 FBN1 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR1
7 endocrine/exocrine gland MP:0005379 9.85 FBN1 SMAD2 SMAD3 TGFB2 TGFBR1 TGFBR2
8 immune system MP:0005387 9.8 FBN1 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR1
9 nervous system MP:0003631 9.7 FBN1 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR1
10 respiratory system MP:0005388 9.43 FBN1 SMAD2 TGFB2 TGFB3 TGFBR1 TGFBR2
11 skeleton MP:0005390 9.17 FBN1 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR1
Sources

Drugs & Therapeutics for Loeys-Dietz Syndrome 5

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Search Clinical Trials , NIH Clinical Center for Loeys-Dietz Syndrome 5

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Genetic Tests for Loeys-Dietz Syndrome 5

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Genetic tests related to Loeys-Dietz Syndrome 5:

# Genetic test Affiliating Genes
1 Loeys-Dietz Syndrome 5 29 TGFB3
Sources

Anatomical Context for Loeys-Dietz Syndrome 5

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Publications for Loeys-Dietz Syndrome 5

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Articles related to Loeys-Dietz Syndrome 5:

# Title Authors PMID Year
1
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. 57 6
25835445 2015
2
De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features. 6 57
24798638 2014
3
A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome. 6 57
23824657 2013
4
N-Cadherin, a cell adhesion molecule involved in establishment of embryonic left-right asymmetry. 57
10807574 2000
5
Transforming Growth Factor Beta3 is Required for Cardiovascular Development. 61
32456345 2020
6
Homozygous deletion of exons 2-7 within TGFB3 gene in a child with severe Loeys-Dietz syndrome and Marfan-like features. 61
32022420 2020
7
Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome. 61
26184463 2015
8
Midterm outcome of valve-sparing aortic root replacement in inherited connective tissue disorders. 61
22051261 2011
Sources

Variations for Loeys-Dietz Syndrome 5

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ClinVar genetic disease variations for Loeys-Dietz Syndrome 5:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TGFB3 NM_003239.4(TGFB3):c.1226G>A (p.Cys409Tyr) SNV Pathogenic 91862 rs398122984 GRCh37: 14:76425543-76425543
GRCh38: 14:75959200-75959200
2 TGFB3 NM_003239.4(TGFB3):c.754+2T>C SNV Pathogenic 203489 rs875989816 GRCh37: 14:76431929-76431929
GRCh38: 14:75965586-75965586
3 TGFB3 NM_003239.4(TGFB3):c.704del (p.Asn235fs) Deletion Pathogenic 203491 rs875989817 GRCh37: 14:76431981-76431981
GRCh38: 14:75965638-75965638
4 TGFB3 NM_003239.5(TGFB3):c.321dup Duplication Pathogenic 441282 rs1555361385 GRCh37: 14:76446915-76446916
GRCh38: 14:75980572-75980573
5 TGFB3 NM_003239.4(TGFB3):c.787G>C (p.Asp263His) SNV Pathogenic 203492 rs796051886 GRCh37: 14:76429798-76429798
GRCh38: 14:75963455-75963455
6 TGFB3 NM_003239.4(TGFB3):c.899G>A (p.Arg300Gln) SNV Pathogenic 143945 rs587777617 GRCh37: 14:76429686-76429686
GRCh38: 14:75963343-75963343
7 TGFB3 NM_003239.4(TGFB3):c.898C>T (p.Arg300Trp) SNV Pathogenic 203490 rs796051885 GRCh37: 14:76429687-76429687
GRCh38: 14:75963344-75963344
8 TGFB3 NM_003239.4(TGFB3):c.927-1G>C SNV Likely pathogenic 487471 rs767548724 GRCh37: 14:76427420-76427420
GRCh38: 14:75961077-75961077
9 TGFB3 NM_003239.4(TGFB3):c.965T>C (p.Ile322Thr) SNV Uncertain significance 410276 rs762643638 GRCh37: 14:76427381-76427381
GRCh38: 14:75961038-75961038
10 TGFB3 NM_003239.4(TGFB3):c.464G>A (p.Arg155Gln) SNV Uncertain significance 575813 rs925224125 GRCh37: 14:76437950-76437950
GRCh38: 14:75971607-75971607
11 TGFB3 NM_003239.5(TGFB3):c.919T>C (p.Cys307Arg) SNV Uncertain significance 931333 GRCh37: 14:76429666-76429666
GRCh38: 14:75963323-75963323
12 TGFB3 NM_003239.5(TGFB3):c.1190A>G (p.Lys397Arg) SNV Uncertain significance 931529 GRCh37: 14:76425579-76425579
GRCh38: 14:75959236-75959236
13 TGFB3 NM_003239.4(TGFB3):c.412T>G (p.Ser138Ala) SNV Uncertain significance 239520 rs201453600 GRCh37: 14:76438002-76438002
GRCh38: 14:75971659-75971659

UniProtKB/Swiss-Prot genetic disease variations for Loeys-Dietz Syndrome 5:

72
# Symbol AA change Variation ID SNP ID
1 TGFB3 p.Cys409Tyr VAR_070924 rs398122984

Sources

Expression for Loeys-Dietz Syndrome 5

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Search GEO for disease gene expression data for Loeys-Dietz Syndrome 5.
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Pathways for Loeys-Dietz Syndrome 5

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Pathways related to Loeys-Dietz Syndrome 5 according to KEGG:

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 FoxO signaling pathway hsa04068
3 Cell cycle hsa04110
4 TGF-beta signaling pathway hsa04350
5 Hippo signaling pathway hsa04390

Pathways related to Loeys-Dietz Syndrome 5 according to GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 63
Show member pathways
 13.68 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
2
GPCR Pathway 63
Show member pathways
 13.54 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
3
TGF-Beta Pathway 63
Show member pathways
 13.4 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
4
Activation of cAMP-Dependent PKA 63
Show member pathways
 13.38 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
5
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. 65
Show member pathways
 13.28 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
6
Integrin Pathway 63
Show member pathways
 13.26 TGFBR2 TGFBR1 TGFB3 TGFB2 FBN1
7
PAK Pathway 63
Show member pathways
 13.17 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
8
Toll-like Receptor Signaling Pathway 36 1
Show member pathways
 13.13 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
9
Phospholipase-C Pathway 63
Show member pathways
 12.92 TGFBR1 TGFB3 TGFB2 FBN1
10
Endometrial cancer 36
Show member pathways
 12.84 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
11
Sertoli-Sertoli Cell Junction Dynamics 63
Show member pathways
 12.81 TGFBR2 TGFBR1 TGFB3 TGFB2
12
Pathways in cancer 36
12.81 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
13
NFAT and Cardiac Hypertrophy 63
Show member pathways
 12.75 TGFBR2 TGFBR1 TGFB3 TGFB2
14
Gastric cancer 36
Show member pathways
 12.74 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
15
Deubiquitination 65
Show member pathways
 12.73 TGFBR2 TGFBR1 SMAD3 SMAD2
16
MAPK signaling pathway 36 1
12.67 TGFBR2 TGFBR1 TGFB3 TGFB2
17
Th17 cell differentiation 36
Show member pathways
 12.58 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
18
Human Embryonic Stem Cell Pluripotency 63
Show member pathways
 12.47 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
19
Endocytosis 36
12.38 TGFBR2 TGFBR1 SMAD3 SMAD2
20
Human T-cell leukemia virus 1 infection 36
12.34 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
21
Cell cycle 36 1
12.33 TGFB3 TGFB2 SMAD3 SMAD2
22
Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer 65
Show member pathways
 12.26 TGFBR2 TGFBR1 SMAD3 SMAD2
23
Wnt / Hedgehog / Notch 4
12.26 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
24
Cell cycle Role of SCF complex in cell cycle regulation 23
Show member pathways
 12.23 TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2
25
Translation Non-genomic (rapid) action of Androgen Receptor 23
Show member pathways
 12.22 TGFBR2 TGFBR1 SMAD3
26
Colorectal Cancer Metastasis 63
12.19 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
27
Hippo signaling pathway 36
12.13 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
28
Immune response IFN alpha/beta signaling pathway 23
Show member pathways
 12.12 TGFBR1 TGFB3 TGFB2
29
FoxO signaling pathway 36
Show member pathways
 12.11 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
30
Cellular senescence (KEGG) 36
12.1 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
31
Integrated Breast Cancer Pathway 1
12.07 TGFBR2 TGFBR1 SMAD2
32
TGF-beta Signaling Pathway (WikiPathways) 1
12.07 TGFBR2 TGFBR1 SMAD3 SMAD2
33
Apelin signaling pathway 36
12.01 TGFBR1 SMAD3 SMAD2
34
Osteoclast differentiation 36
11.98 TGFBR2 TGFBR1 TGFB2
35
Cytokine production by Th17 cells in CF (Mouse model) 23
Show member pathways
 11.91 TGFBR2 TGFBR1 SMAD3 SMAD2
36
AGE-RAGE signaling pathway in diabetic complications 36
11.85 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
37
SMAD2/3 MH2 Domain Mutants in Cancer 65
Show member pathways
 11.82 TGFBR2 TGFBR1 SMAD3 SMAD2
38
Angiogenesis (CST) 4
11.81 TGFBR1 TGFB3 TGFB2
39
Development_TGF-beta receptor signaling 23
11.79 TGFBR2 TGFBR1 SMAD3 SMAD2
40
TGF-beta Signaling Pathways 64
11.78 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
41
TGF-beta receptor signaling activates SMADs 65
Show member pathways
 11.77 TGFBR2 TGFBR1 SMAD3 SMAD2
42
Elastic fibre formation 65
Show member pathways
 11.72 TGFB3 TGFB2 FBN1
43
Transcription_P53 signaling pathway 23
11.72 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
44
Adherens junction 36
11.71 TGFBR2 TGFBR1 SMAD3
45
Th17 Differentiation Pathway 64
Show member pathways
 11.69 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
46
TGF-beta Receptor Signaling (WikiPathways) 1
11.67 TGFBR2 TGFBR1 SMAD3 SMAD2
47
TGF-beta receptor signaling (Pathway Interaction Database) 1
11.58 TGFBR2 TGFBR1 TGFB3 SMAD3 SMAD2
48
IL-2 Gene Expression in Activated and Quiescent T-Cells 63
Show member pathways
 11.57 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
49
Cell adhesion_Plasmin signaling 23
11.53 TGFBR2 TGFBR1 TGFB2
50
Mitotic Roles of Polo Like Kinases 63
11.47 TGFB3 TGFB2
Sources

GO Terms for Loeys-Dietz Syndrome 5

About this section

Cellular components related to Loeys-Dietz Syndrome 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 9.33 TGFBR2 TGFBR1 SMAD3
2 heteromeric SMAD protein complex GO:0071144 8.96 SMAD3 SMAD2
3 SMAD protein complex GO:0071141 8.62 SMAD3 SMAD2

Biological processes related to Loeys-Dietz Syndrome 5 according to GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 10.02 TGFBR1 TGFB3 SMAD3 SMAD2
2 protein phosphorylation GO:0006468 10.01 TGFBR2 TGFBR1 TGFB2 SMAD2
3 positive regulation of cell proliferation GO:0008284 10 TGFBR2 TGFBR1 TGFB3 TGFB2
4 negative regulation of cell proliferation GO:0008285 9.97 TGFBR2 TGFB3 TGFB2 SMAD3 SMAD2
5 protein deubiquitination GO:0016579 9.91 TGFBR1 SMAD3 SMAD2
6 regulation of cell proliferation GO:0042127 9.89 TGFBR2 TGFB3 TGFB2
7 response to hypoxia GO:0001666 9.89 TGFBR2 TGFB3 TGFB2 SMAD3
8 heart development GO:0007507 9.89 TGFBR2 TGFBR1 TGFB2 SMAD2 FBN1
9 anatomical structure morphogenesis GO:0009653 9.87 SMAD3 SMAD2 FBN1
10 kidney development GO:0001822 9.87 TGFBR1 TGFB2 FBN1
11 cell cycle arrest GO:0007050 9.86 TGFBR1 TGFB2 SMAD3
12 skeletal system development GO:0001501 9.86 TGFBR1 TGFB2 SMAD3 FBN1
13 in utero embryonic development GO:0001701 9.85 TGFBR2 TGFBR1 TGFB3 SMAD3 SMAD2
14 BMP signaling pathway GO:0030509 9.84 TGFB3 TGFB2 SMAD3 SMAD2
15 cellular response to transforming growth factor beta stimulus GO:0071560 9.82 TGFBR1 SMAD3 FBN1
16 positive regulation of stress fiber assembly GO:0051496 9.8 TGFBR1 TGFB3 SMAD3
17 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.79 TGFBR1 TGFB3 TGFB2
18 SMAD protein signal transduction GO:0060395 9.78 TGFB3 TGFB2 SMAD3 SMAD2
19 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.77 TGFBR2 TGFBR1 TGFB3 SMAD3 SMAD2
20 gastrulation GO:0007369 9.76 TGFBR2 SMAD3 SMAD2
21 collagen fibril organization GO:0030199 9.75 TGFBR1 TGFB2
22 positive regulation of cell division GO:0051781 9.75 TGFB3 TGFB2
23 ventricular septum morphogenesis GO:0060412 9.75 TGFBR2 TGFBR1 TGFB2
24 positive regulation of protein secretion GO:0050714 9.74 TGFB3 TGFB2
25 extrinsic apoptotic signaling pathway GO:0097191 9.74 TGFB2 SMAD3
26 lens development in camera-type eye GO:0002088 9.74 TGFBR2 TGFBR1
27 epithelial to mesenchymal transition GO:0001837 9.74 TGFBR1 TGFB2
28 response to progesterone GO:0032570 9.74 TGFB3 TGFB2
29 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.74 TGFB2 SMAD3
30 ureteric bud development GO:0001657 9.74 SMAD3 SMAD2
31 positive regulation of bone mineralization GO:0030501 9.73 TGFB3 SMAD3
32 positive regulation of epithelial cell migration GO:0010634 9.73 TGFBR2 TGFB2
33 odontogenesis GO:0042476 9.73 TGFB3 TGFB2
34 mesoderm formation GO:0001707 9.73 SMAD3 SMAD2
35 digestive tract development GO:0048565 9.73 TGFBR2 TGFB3
36 positive regulation of filopodium assembly GO:0051491 9.72 TGFBR1 TGFB3
37 embryonic pattern specification GO:0009880 9.72 SMAD3 SMAD2
38 endoderm development GO:0007492 9.72 SMAD3 SMAD2
39 developmental growth GO:0048589 9.72 SMAD3 SMAD2
40 cell-cell junction organization GO:0045216 9.72 TGFB3 TGFB2 SMAD3
41 outflow tract septum morphogenesis GO:0003148 9.71 TGFBR2 TGFB2
42 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.71 SMAD3 SMAD2
43 adrenal gland development GO:0030325 9.71 SMAD3 SMAD2
44 embryonic cranial skeleton morphogenesis GO:0048701 9.71 TGFBR2 TGFBR1 SMAD3 SMAD2
45 signal transduction involved in regulation of gene expression GO:0023019 9.7 SMAD3 SMAD2
46 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.7 TGFBR2 TGFBR1
47 positive regulation of SMAD protein signal transduction GO:0060391 9.7 TGFBR1 TGFB3
48 pathway-restricted SMAD protein phosphorylation GO:0060389 9.7 TGFBR2 TGFBR1 TGFB2
49 response to cholesterol GO:0070723 9.69 TGFBR2 TGFBR1 SMAD2
50 cardiac epithelial to mesenchymal transition GO:0060317 9.68 TGFBR1 TGFB2

Molecular functions related to Loeys-Dietz Syndrome 5 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta binding GO:0050431 9.58 TGFBR2 TGFBR1 TGFB3
2 I-SMAD binding GO:0070411 9.54 TGFBR1 SMAD3 SMAD2
3 phosphatase binding GO:0019902 9.52 SMAD3 SMAD2
4 R-SMAD binding GO:0070412 9.51 SMAD3 SMAD2
5 type I transforming growth factor beta receptor binding GO:0034713 9.5 TGFBR2 TGFB3 SMAD2
6 activin binding GO:0048185 9.49 TGFBR2 TGFBR1
7 co-SMAD binding GO:0070410 9.48 SMAD3 SMAD2
8 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.46 TGFBR2 TGFBR1
9 SMAD binding GO:0046332 9.46 TGFBR2 TGFBR1 SMAD3 SMAD2
10 transforming growth factor beta-activated receptor activity GO:0005024 9.43 TGFBR2 TGFBR1
11 type II transforming growth factor beta receptor binding GO:0005114 9.43 TGFBR1 TGFB3 TGFB2
12 type III transforming growth factor beta receptor binding GO:0034714 9.13 TGFBR2 TGFB3 TGFB2
13 transforming growth factor beta receptor binding GO:0005160 8.92 TGFB3 TGFB2 SMAD3 SMAD2
Sources

Sources for Loeys-Dietz Syndrome 5

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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